MCID: ATY025
MIFTS: 16

Atypical Glycine Encephalopathy

Categories: Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Atypical Glycine Encephalopathy

MalaCards integrated aliases for Atypical Glycine Encephalopathy:

Name: Atypical Glycine Encephalopathy 60
Atypical Non-Ketotic Hyperglycinemia 60
Atypical Nka 60

Characteristics:

Orphanet epidemiological data:

60
atypical glycine encephalopathy
Prevalence: <1/1000000 (Worldwide); Age of onset: All ages;

Classifications:



External Ids:

ICD10 via Orphanet 35 E72.5
Orphanet 60 ORPHA289863

Summaries for Atypical Glycine Encephalopathy

MalaCards based summary : Atypical Glycine Encephalopathy, also known as atypical non-ketotic hyperglycinemia, is related to glycine encephalopathy and encephalopathy. An important gene associated with Atypical Glycine Encephalopathy is SLC6A9 (Solute Carrier Family 6 Member 9), and among its related pathways/superpathways are Carbon metabolism and Glycine, serine and threonine metabolism.

Related Diseases for Atypical Glycine Encephalopathy

Diseases related to Atypical Glycine Encephalopathy via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 glycine encephalopathy 28.1 AMT GCSH GLDC SLC6A9
2 encephalopathy 9.9

Symptoms & Phenotypes for Atypical Glycine Encephalopathy

Drugs & Therapeutics for Atypical Glycine Encephalopathy

Search Clinical Trials , NIH Clinical Center for Atypical Glycine Encephalopathy

Genetic Tests for Atypical Glycine Encephalopathy

Anatomical Context for Atypical Glycine Encephalopathy

Publications for Atypical Glycine Encephalopathy

Articles related to Atypical Glycine Encephalopathy:

# Title Authors Year
1
Atypical glycine encephalopathy in an extremely low birth weight infant: description of a new mutation and clinical and electroencephalographic analysis. ( 19299230 )
2009

Variations for Atypical Glycine Encephalopathy

ClinVar genetic disease variations for Atypical Glycine Encephalopathy:

6 (show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 SLC6A9 NM_201649.3(SLC6A9): c.1219A> G (p.Ser407Gly) single nucleotide variant Pathogenic rs1057519313 GRCh38 Chromosome 1, 44001590: 44001590
2 SLC6A9 NM_201649.3(SLC6A9): c.1219A> G (p.Ser407Gly) single nucleotide variant Pathogenic rs1057519313 GRCh37 Chromosome 1, 44467262: 44467262
3 SLC6A9 NM_201649.3(SLC6A9): c.1717C> T (p.Gln573Ter) single nucleotide variant Pathogenic rs1057519314 GRCh37 Chromosome 1, 44466477: 44466477
4 SLC6A9 NM_201649.3(SLC6A9): c.1717C> T (p.Gln573Ter) single nucleotide variant Pathogenic rs1057519314 GRCh38 Chromosome 1, 44000805: 44000805
5 SLC6A9 NM_201649.3(SLC6A9): c.928_932delAAGTC (p.Lys310Phefs) deletion Pathogenic rs1057519315 GRCh37 Chromosome 1, 44468535: 44468539
6 SLC6A9 NM_201649.3(SLC6A9): c.928_932delAAGTC (p.Lys310Phefs) deletion Pathogenic rs1057519315 GRCh38 Chromosome 1, 44002863: 44002867
7 SLC6A9 NM_201649.3(SLC6A9): c.1179C> T (p.Tyr393=) single nucleotide variant Benign rs61733181 GRCh38 Chromosome 1, 44002315: 44002315
8 SLC6A9 NM_201649.3(SLC6A9): c.1179C> T (p.Tyr393=) single nucleotide variant Benign rs61733181 GRCh37 Chromosome 1, 44467987: 44467987
9 SLC6A9 NM_201649.3(SLC6A9): c.1756-6G> A single nucleotide variant Benign rs113184612 GRCh37 Chromosome 1, 44463703: 44463703
10 SLC6A9 NM_201649.3(SLC6A9): c.1756-6G> A single nucleotide variant Benign rs113184612 GRCh38 Chromosome 1, 43998031: 43998031
11 SLC6A9 NM_201649.3(SLC6A9): c.1051C> T (p.Gln351Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 1, 44002538: 44002538
12 SLC6A9 NM_201649.3(SLC6A9): c.1051C> T (p.Gln351Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 1, 44468210: 44468210

Expression for Atypical Glycine Encephalopathy

Search GEO for disease gene expression data for Atypical Glycine Encephalopathy.

Pathways for Atypical Glycine Encephalopathy

GO Terms for Atypical Glycine Encephalopathy

Cellular components related to Atypical Glycine Encephalopathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.33 AMT GCSH GLDC
2 mitochondrial matrix GO:0005759 9.13 AMT GCSH GLDC
3 glycine cleavage complex GO:0005960 8.62 GCSH GLDC

Biological processes related to Atypical Glycine Encephalopathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 methylation GO:0032259 9.16 AMT GCSH
2 glycine decarboxylation via glycine cleavage system GO:0019464 9.13 AMT GCSH GLDC
3 glycine catabolic process GO:0006546 8.8 AMT GCSH GLDC

Molecular functions related to Atypical Glycine Encephalopathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 aminomethyltransferase activity GO:0004047 8.62 AMT GCSH

Sources for Atypical Glycine Encephalopathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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